Genetic Epilepsy
Gene: IBA57

IBA57 (IBA57 homolog, iron-sulfur cluster assembly)
EnsemblGeneIds (GRCh38): ENSG00000181873
EnsemblGeneIds (GRCh37): ENSG00000181873
OMIM: 615316, Gene2Phenotype
IBA57 is in 8 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 30258207 - girl with developmental regression and spastic quadriplegia. Brain MRI at 8 months showed cerebral white matter involvement, periventricular rarefaction, and corpus callosum involvement. She developed febrile seizures at the age of 18 months.
Chet missense pair found, no functional studies to support pathogenicity
Sources: Literature
Created: 25 Jan 2024, 12:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple mitochondrial dysfunctions syndrome 3 MIM#615330

Publications

PMID: 30258207

Created: 25 Jan 2024, 12:20 a.m.

Panel version: 0.2173

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Literature

Phenotypes

Multiple mitochondrial dysfunctions syndrome 3 MIM#615330

OMIM

615316

Clinvar variants

Variants in IBA57

Penetrance

None

Publications

PMID: 30258207

Panels with this gene

History Filter Activity

25 Jan 2024, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: iba57 has been classified as Red List (Low Evidence).

25 Jan 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes